Buzzwords

Question 1

🔑 Buzzword: Salt and pepper retina

Answer 1

Think: Congenital Rubella

Question 2

🔑 Buzzword: Blue diaper syndrome

Answer 2

Think: Abnormal intestinal tryptophan transport → blue urine

Question 3

🔑 Buzzword: Alaskan Eskimo population + liver disease

Answer 3

Think: Hepatitis B (high carrier prevalence)

Question 4

🔑 Buzzword: Blueberry muffin rash

Answer 4

Think: Congenital CMV (also rubella, toxo — but blueberry muffin = CMV first)

Question 5

🔑 Buzzword: Slapped cheek appearance

Answer 5

Think: Parvovirus B19 (Fifth disease)

Question 6

🔑 Buzzword: Celery-stalking long bones on X-ray

Answer 6

Think: Congenital Rubella

Question 7

🔑 Buzzword: Popcorn / snowflake intracranial calcifications

Answer 7

Think: Congenital Toxoplasmosis

Question 8

🔑 Buzzword: Plucked chicken skin appearance

Answer 8

Think: Keratosis pilaris

Question 9

🔑 Buzzword: Greek helmet facies

Answer 9

Think: Wolf-Hirschhorn syndrome (4p deletion)

Question 10

🔑 Buzzword: Mitten hands and feet (syndactyly)

Answer 10

Think: Apert syndrome

Question 11

🔑 Buzzword: Cloverleaf skull

Answer 11

Think: Thanatophoric dysplasia; also Pfeiffer and Crouzon syndromes

Question 12

🔑 Buzzword: Pili torti (twisted hair)

Answer 12

Think: Menkes disease (copper transport defect)

Question 13

🔑 Buzzword: Testes at ‘12 o’clock’ position

Answer 13

Think: 5-alpha reductase deficiency

Question 14

🔑 Buzzword: Seal bark cry

Answer 14

Think: Tracheomalacia — also look for associated esophageal atresia

Question 15

🔑 Buzzword: Stippled epiphyses on X-ray

Answer 15

Think: In utero Coumadin (warfarin) exposure

Question 16

🔑 Buzzword: Hockey stick palmar crease

Answer 16

Think: Fetal Alcohol Syndrome

Question 17

🔑 Buzzword: Patellar stippling

Answer 17

Think: Zellweger syndrome (peroxisomal disorder)

Question 18

🔑 Buzzword: Snuffles + saber shins + Hutchinson teeth

Answer 18

Think: Congenital Syphilis

Question 19

🔑 Buzzword: Single bubble sign on AXR

Answer 19

Think: Pyloric atresia

Question 20

🔑 Buzzword: Double bubble sign on AXR

Answer 20

Think: Duodenal atresia

Question 21

🔑 Buzzword: Triple bubble sign on AXR

Answer 21

Think: Jejunal or ileal atresia

Question 22

🔑 Buzzword: Apple core / string sign on imaging

Answer 22

Think: Pyloric stenosis

Question 23

🔑 Buzzword: Filling defects on barium enema

Answer 23

Think: Meconium plug syndrome

Question 24

🔑 Buzzword: Northern European mother + infant anemia

Answer 24

Think: Sphero/elliptocytosis or Pyruvate kinase deficiency

Question 25

🔑 Buzzword: Navajo Indian infant + methemoglobinemia

Answer 25

Think: Congenital methemoglobin (MetHb)

Question 26

🔑 Buzzword: Chocolate-colored blood

Answer 26

Think: Methemoglobinemia

Question 27

🔑 Buzzword: Chocolate-colored amniotic fluid

Answer 27

Think: Listeria monocytogenes infection

Question 28

🔑 Buzzword: Finnish or Amish descent + neutropenia

Answer 28

Think: Cartilage-hair hypoplasia

Question 29

🔑 Buzzword: Depakote (valproate) in pregnancy

Answer 29

Think: Neural tube defects + limb defects

Question 30

🔑 Buzzword: Digoxin toxicity in neonate

Answer 30

Think: Feeding intolerance + any arrhythmia

Question 31

🔑 Buzzword: Boggy placenta

Answer 31

Think: Congenital Syphilis OR Congenital nephrotic syndrome

Question 32

🔑 Buzzword: Scimitar sign on CXR

Answer 32

Think: PAPVR — right pulmonary vein draining into IVC

Question 33

🔑 Buzzword: 3-sign / E-sign on CXR or aortogram

Answer 33

Think: Coarctation of the aorta

Question 34

⭐ Buzzword: Classic cardiac silhouette shapes — match each to diagnosis

Answer 34

Snowman = TAPVR | Boot (coeur en sabot) = Tetralogy of Fallot | Egg on a string = Transposition of Great Arteries (TGA)

Question 35

🔑 Buzzword: Howell-Jolly bodies on smear

Answer 35

Think: Asplenia (no functional spleen)

Question 36

🔑 Buzzword: Heinz bodies on smear

Answer 36

Think: Denatured hemoglobin → enzyme defect (e.g., G6PD)

Question 37

🔑 Buzzword: Banana + lemon sign on prenatal ultrasound

Answer 37

Think: Myelomeningocele (neural tube defect)

Question 38

🔑 Buzzword: Mouse urine odor

Answer 38

Think: PKU (phenylketonuria)

Question 39

🔑 Buzzword: Sweaty feet odor

Answer 39

Think: Isovaleric acidemia OR Glutaric aciduria type 2

Question 40

🔑 Buzzword: Elevated urine succinylacetone

Answer 40

Think: Tyrosinemia type I

Question 41

🔑 Buzzword: Male cat urine smell

Answer 41

Think: Beta-methylcrotonyl glycinuria

Question 42

🔑 Buzzword: Meckel-Gruber syndrome

Answer 42

Think: Encephalocele (+ polycystic kidneys, polydactyly)

Question 43

🔑 Buzzword: Dive bomber EMG pattern

Answer 43

Think: Congenital myotonic dystrophy

Question 44

🔑 Buzzword: Corkscrew pattern on upper GI series

Answer 44

Think: Malrotation (with midgut volvulus risk)

Question 45

🔑 Buzzword: Lithium exposure in pregnancy

Answer 45

Think: Ebstein's anomaly (tricuspid valve displacement)

Question 46

🔑 Buzzword: Elfin facies

Answer 46

Think: Williams syndrome (7q11 deletion)

Question 47

🔑 Buzzword: Expressionless / mask-like facies

Answer 47

Think: Möbius syndrome (CN VI + VII palsy)

Question 48

🔑 Buzzword: Cataracts + hepatomegaly in newborn

Answer 48

Think: Galactosemia

Question 49

🔑 Buzzword: Retrograde aortic flow on echo

Answer 49

Think: Hypoplastic Left Heart Syndrome (HLHS)